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Article

Novel compound heterozygous variants in NMNAT1 associated with leber congenital amaurosis: clinical and mutational profiles.

Molecular biology reports - 27 Mar 2026

Kohkalani Moein, Rezaei Seyyed Amin Seyyed, Hasani Elaheh, Naghinejad Maryam, Khaniani Mahmoud Shekari, Amirfiroozy Akbar, Taheri Mohammad

Abstract excerpt

BACKGROUND: Leber congenital amaurosis (LCA) is a severe inherited retinal disorder that appears in early childhood and represents one of the primary causes of pediatric blindness. More than 25 genes, including NMNAT1, have been linked to this condition. METHODS: A 5-year-old boy presenting clinical signs of LCA underwent whole-exome sequencing (WES). Comprehensive ophthalmic assessments, including optical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41893925
DOI: 10.1007/s11033-026-11630-3

Genes

NMNAT1
ERG

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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